5q35 copy number variation (Homo sapiens)

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23912219171215211775, 6221410213, 8, 16, 202142417141115211813AggregationNeurite outgrowthATP-dependent RNA helicaseLiposomeBindingFunction unknownRecognizes the core sequence 5'-CAC[GA]TG-3'StimulationLipid droplet degradationPotential NADPH-dependent oxidoreductasemay bind to miRNA hairpinsActin cytoskeleton-organizing protein that plays a role in the formation of cell projectionsRegulates G protein-coupled receptor signaling cascadesMay play a role in cell-cell adhesion and contact inhibitionIn primary Th cellsBiosynthesis of the tetrasaccharide linkageregion of proteoglycansUbiquitin-binding proteinConversionBinds to actin and affects thestructure of the cytoskeletonUbiquitinatedFunction unknownFunction unknownchr5:175,720,924May be involved in autophagy-related processesIn T cellsInhibitionLow affinityAccumulationPhosphorylatedMay be involved in the regulation of neuronalsurvival, differentiation and axonal outgrowthRenal brush border membraneFacilitates ribosome bindingHigh affinityMay be involved in neurite outgrowthLEGENDCatalysisMay function as a scaffold on which the coordinatedassembly of proteins can occurIs the major protein of the polyhedral coat of coated pits and vesiclesRequired for actin polymerization at immunological synapses, and for the recruitment of the chemokine receptor CXCR4Desensitization and internalizationMitochondrial apoptosisphosphatidic acidsT cell receptor signaling pathwayCoagulation cascadeANKS4BMIR1271Netrin signaling pathwayUSH1CABL1NSD1JNK singaling pahwayMXD3RN7SL562PBMP6 signaling pathwayDBN1Phosphatidylinositol 4-phosphatedsRNAD-glucoseLMAN2Misfolded endoplasmic reticulum proteinsH2AXBARD1NOP16PhosphateGNAI2MT-CO1PRELID1Na+PIK3R1O-glycansGAB1TMED9MYCDioxygenDOK3GRB2COX6A17-methylguanosine-containing mRNA cap SOS1Phosphatidylinositol 4,5-bisphosphateStaurosporinePhosphatidylinositol 3-phosphateMYO7BKIAA1191TMED2ZNF346-IT1EIF4E1BSecretory lectin pathwayTMED10MAXGNAI3SIMC1HIGD2AUIMC1N-acetyl-D-galactosaminePRR7UNC5APrimary bile acid biosynthesisNTN1D-fructoseH2APolyprolineTSPAN17HK3CDHR5Inositol 1,4,5-trisphosphateCOX5BGPRIN1SLC34A1COX4I1G protein-coupled receptorsPFN3F12GRK6ARL10COX8ACDHR2FAM193BCOX5APLCG1HydronCOX6B1Histone 3TRIAP1ApoptosisOxidopamineCLTBMIR4281dsDNASNCBHigh-mannose N-glycan groupWaterGNAI1B4GALT7JUNZNF346ssRNACOX7A1FGFR4MT-CO2COX7BPRR7-AS1PTPN2COX7CPNPLA2D-fructose-6-phosphateBRCA1RN7SL684PSNCACAPN3FRS2cardiolipinsRGS14IGF-1 signalingCOX6CIGF1RFAF2INPP5DPDLIM7MT-CO3ARFGAP2DDX41D-Glucose 6-phosphateRAB24RNF441717Controls the packing of microvilli at the apical membrane of epithelial cellsImportant in microvilli and epithelialbrush border differentiationCDHR5Regulates maturationADAM10Function unknownFunction unknownHIGD2AHydronHydronHydronWaterMisfolded endoplasmic reticulum proteinsUFunction unknownCDHR2CDHR2Function unknownFunction unknownFRS2PLCG1PPMAP kinase signaling pathwayPI3K-AKT1 signaling pathwayCell proliferation, differentiation,and migrationSecondary bile acid biosynthesisHistone 3PPPRELID1phosphatidic acidsLiposomephosphatidic acidsGNAI3MAP kinase signaling pathwayNa+Na+PhosphateNa+Na+Na+G protein-coupled receptorsPJUNJUNJUNPUApoptosisPU


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Bibliography

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History

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CompareRevisionActionTimeUserComment
134531view16:31, 22 July 2024EgonwAdded a missing datasource
134530view14:34, 22 July 2024EgonwRemoved template comments
134447view23:53, 21 July 2024EweitzOntology Term : 'disease of mental health' added !
127451view18:32, 3 October 2023Khanspersconnected one interaction and updated legend from interactions to graphical lines
127116view22:26, 3 August 2023AlexanderPicofixed characters in bibliography
127093view10:48, 2 August 2023FehrhartOntology Term : 'disease pathway' added !
127092view10:48, 2 August 2023FehrhartOntology Term : 'Sotos syndrome' added !
127091view10:47, 2 August 2023FehrhartModified description
127090view10:42, 2 August 2023Fehrhartcorrection
127089view10:00, 2 August 2023Fehrhartcorrection and update in progress
127084view14:01, 1 August 2023Fehrhartupdate and correction in progress
127083view10:24, 1 August 2023Fehrhartcorrecton and update in progress
127074view13:02, 27 July 2023Fehrhartcorrection in progress
127073view12:20, 27 July 2023Fehrhartcorrection in progress
127072view11:33, 27 July 2023Fehrhartcorrection in progress
127071view11:25, 27 July 2023Fehrhartcorrections
127070view10:18, 27 July 2023Fehrhartcorrections
127069view09:49, 27 July 2023Fehrhartcorrections
126928view06:05, 7 July 2023EgonwTyped a number of datanodes as metabolite
126854view20:43, 27 June 2023Ewoud
126850view09:41, 27 June 2023Ewoud
126848view09:31, 27 June 2023Ewoud
126676view16:03, 11 June 2023Ewoudfiller
126675view16:03, 11 June 2023Ewoudfiller
126674view16:02, 11 June 2023EwoudNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
GeneProduct
7-methylguanosine-containing mRNA cap
ABL1GeneProductENSG00000097007 (Ensembl)
ADAM10GeneProductENSG00000137845 (Ensembl)
ANKS4BGeneProductENSG00000175311 (Ensembl)
ARFGAP2GeneProductENSG00000149182 (Ensembl)
ARL10GeneProductENSG00000175414
ApoptosisPathwaymap04210 (KEGG Pathway)
B4GALT7GeneProductENSG00000027847
BARD1GeneProductENSG00000138376 (Ensembl)
BMP6 signaling pathwayPathway
BRCA1GeneProductENSG00000012048 (Ensembl)
CAPN3GeneProductENSG00000092529 (Ensembl)
CDHR2GeneProductENSG00000074276 (Ensembl)
CDHR5GeneProductENSG00000099834 (Ensembl)
CLTBGeneProductENSG00000175416
COX4I1GeneProductENSG00000131143 (Ensembl)
COX5AGeneProductENSG00000178741 (Ensembl)
COX5BGeneProductENSG00000135940 (Ensembl)
COX6A1GeneProductENSG00000111775 (Ensembl)
COX6B1GeneProductENSG00000126267 (Ensembl)
COX6CGeneProductENSG00000164919 (Ensembl)
COX7A1GeneProductENSG00000161281 (Ensembl)
COX7BGeneProductENSG00000131174 (Ensembl)
COX7CGeneProductENSG00000127184 (Ensembl)
COX8AGeneProductENSG00000176340 (Ensembl)
Cell proliferation, differentiation, and migrationPathway
Coagulation cascadePathwaymap04610 (KEGG Pathway)
D-Glucose 6-phosphateMetaboliteCHEBI:4170 (ChEBI)
D-fructose-6-phosphateMetaboliteQ32039197 (Wikidata)
D-fructoseMetaboliteCHEBI:15824 (ChEBI)
D-glucoseMetaboliteCHEBI:17634 (ChEBI)
DBN1GeneProductENSG00000113758
DDX41GeneProductENSG00000183258
DOK3GeneProductENSG00000146094
DioxygenMetaboliteCHEBI:15379 (ChEBI)
EIF4E1BGeneProductENSG00000175766
F12GeneProductENSG00000131187
FAF2GeneProductENSG00000113194
FAM193BGeneProductENSG00000146067
FGFR4GeneProductENSG00000160867
FRS2GeneProductENSG00000166225 (Ensembl)
G protein-coupled receptors
GAB1GeneProductENSG00000109458 (Ensembl)
GNAI1GeneProductENSG00000127955 (Ensembl)
GNAI2GeneProductENSG00000114353 (Ensembl)
GNAI3GeneProductENSG00000065135 (Ensembl)
GPRIN1GeneProductENSG00000169258
GRB2GeneProductENSG00000177885 (Ensembl)
GRK6GeneProductENSG00000198055
H2AGeneProduct
H2AXGeneProductENSG00000188486 (Ensembl)
HIGD2AGeneProductENSG00000146066 (Ensembl)
HK3GeneProductENSG00000160883
High-mannose N-glycan groupMetaboliteCHEBI:156208 (ChEBI)
Histone 3GeneProductENSG00000163041 (Ensembl)
HydronMetaboliteCHEBI:15378 (ChEBI)
IGF-1 signalingPathwayWP2892 (WikiPathways)
IGF1RGeneProductENSG00000140443 (Ensembl)
INPP5DGeneProductENSG00000168918 (Ensembl)
Inositol 1,4,5-trisphosphateMetaboliteCHEBI:16595 (ChEBI)
JNK singaling pahwayPathway
JUNGeneProductENSG00000177606 (Ensembl)
KIAA1191GeneProductENSG00000122203
LMAN2GeneProductENSG00000169223
MAP kinase signaling pathwayPathwaymap04010 (KEGG Pathway)
MAXGeneProductENSG00000125952 (Ensembl)
MIR1271GeneProductENSG00000221464
MIR4281GeneProductENSG00000266329
MT-CO1GeneProductENSG00000198804 (Ensembl)
MT-CO2GeneProductENSG00000198712 (Ensembl)
MT-CO3GeneProductENSG00000198938 (Ensembl)
MXD3GeneProductENSG00000213347
MYCMetaboliteQ27288190 (Wikidata)
MYO7BGeneProductENSG00000169994 (Ensembl)
Misfolded endoplasmic reticulum proteins
Mitochondrial apoptosisPathwaymap04210 (KEGG Pathway)
N-acetyl-D-galactosamineMetaboliteCHEBI:62678 (ChEBI)
NOP16GeneProductENSG00000048162
NSD1GeneProductENSG00000165671
NTN1GeneProductENSG00000065320 (Ensembl)
Na+CHEBI:29101 (ChEBI)
Netrin signaling pathwayPathwayWP4747 (WikiPathways)
O-glycansMetaboliteCHEBI:59521 (ChEBI)
OxidopamineMetaboliteCHEBI:78741 (ChEBI)
PDLIM7GeneProductENSG00000196923
PFN3GeneProductENSG00000196570
PI3K-AKT1 signaling pathwayPathwaymap04151 (KEGG Pathway)
PIK3R1GeneProductENSG00000145675 (Ensembl)
PLCG1GeneProductENSG00000124181 (Ensembl)
PNPLA2GeneProductENSG00000177666 (Ensembl)
PRELID1GeneProductENSG00000169230
PRELID1GeneProductENSG00000169230 (Ensembl)
PRR7-AS1GeneProductENSG00000246334
PRR7GeneProductENSG00000131188
PTPN2GeneProductENSG00000175354 (Ensembl)
PhosphateCHEBI:43474 (ChEBI)
Phosphatidylinositol 3-phosphateMetaboliteCHEBI:26034 (ChEBI)
Phosphatidylinositol 4,5-bisphosphateMetaboliteCHEBI:18348 (ChEBI)
Phosphatidylinositol 4-phosphateMetaboliteCHEBI:17526 (ChEBI)
PolyprolineMetaboliteCHEBI:8321 (ChEBI)
Primary bile acid biosynthesisPathwaymap00120 (KEGG Pathway)
RAB24GeneProductENSG00000169228
RGS14GeneProductENSG00000169220
RN7SL562PGeneProductENSG00000266089
RN7SL684PGeneProductENSG00000243959
RNF44GeneProductENSG00000146083
SIMC1GeneProductENSG00000170085
SLC34A1GeneProductENSG00000131183
SNCAGeneProductENSG00000145335 (Ensembl)
SNCBGeneProductENSG00000074317
SOS1GeneProductENSG00000115904 (Ensembl)
Secondary bile acid biosynthesisPathwaymap00121 (KEGG Pathway)
Secretory lectin pathwayPathway
StaurosporineMetaboliteCHEBI:57491 (ChEBI)
T cell receptor signaling pathwayPathwaymap04660 (KEGG Pathway)
TMED10GeneProductENSG00000170348 (Ensembl)
TMED2GeneProductENSG00000086598 (Ensembl)
TMED9GeneProductENSG00000184840
TRIAP1GeneProductENSG00000170855 (Ensembl)
TSPAN17GeneProductENSG00000048140
UIMC1GeneProductENSG00000087206
UNC5AGeneProductENSG00000113763
USH1CGeneProductENSG00000006611 (Ensembl)
WaterMetaboliteCHEBI:15377 (ChEBI)
ZNF346-IT1GeneProductENSG00000251666
ZNF346GeneProductENSG00000113761
cardiolipinsMetaboliteCHEBI:28494 (ChEBI)
dsDNAMetaboliteCHEBI:4705 (ChEBI)
dsRNARna
phosphatidic acidsMetaboliteCHEBI:16337 (ChEBI)
ssRNARna

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5380"
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